Article
Arrayed CRISPR/Cas9 Loss-Of-Function Screen in a Neuronal Model of Adaptor Protein Complex 4 Deficiency Identifies Modulators of ATG9A Trafficking
2025-02-23
Abstract excerpt
<h4>SUMMARY</h4> Biallelic loss-of-function variants in the adaptor protein complex 4 (AP-4) disrupt trafficking of transmembrane proteins at the trans -Golgi network, including the autophagy-related protein 9A (ATG9A), leading to childhood-onset hereditary spastic paraplegia (AP-4-HSP). AP-4-HSP is characterized by features of both a neurodevelopmental and degenerative neurological disease. To investigate the m...
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Identifiers and source
- Literature Corpus work
- 6e9be3fb-0ee9-50c9-bcce-3164fc2af232
- DOI
- 10.1101/2025.02.22.639634
